Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Urate nephropathy |
Is a |
False |
Acute metabolic disorder |
Inferred relationship |
Some |
|
Gaucher disease type 2 is the acute neurological form of Gaucher disease. It is characterised by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2. |
Is a |
True |
Acute metabolic disorder |
Inferred relationship |
Some |
|
Acute cholestatic jaundice syndrome |
Is a |
True |
Acute metabolic disorder |
Inferred relationship |
Some |
|
Acute zinc deficiency |
Is a |
False |
Acute metabolic disorder |
Inferred relationship |
Some |
|
Fumarylacetoacetase deficiency, acute type |
Is a |
False |
Acute metabolic disorder |
Inferred relationship |
Some |
|
Acute hyponatremia |
Is a |
True |
Acute metabolic disorder |
Inferred relationship |
Some |
|
syndrome d'urémie prérénale |
Is a |
False |
Acute metabolic disorder |
Inferred relationship |
Some |
|
Acute hyperkalemia |
Is a |
False |
Acute metabolic disorder |
Inferred relationship |
Some |
|
Acute respiratory alkalosis |
Is a |
True |
Acute metabolic disorder |
Inferred relationship |
Some |
|
Acute hypokalaemia |
Is a |
True |
Acute metabolic disorder |
Inferred relationship |
Some |
|
Familial arthrogryposis-cholestatic hepatorenal syndrome |
Is a |
False |
Acute metabolic disorder |
Inferred relationship |
Some |
|
Acute respiratory acidosis |
Is a |
False |
Acute metabolic disorder |
Inferred relationship |
Some |
|
Acute hypernatremia |
Is a |
True |
Acute metabolic disorder |
Inferred relationship |
Some |
|
Acute mountain sickness |
Is a |
False |
Acute metabolic disorder |
Inferred relationship |
Some |
|
Acute milk alkali syndrome |
Is a |
False |
Acute metabolic disorder |
Inferred relationship |
Some |
|
Gaucher disease type 2 is the acute neurological form of Gaucher disease. It is characterised by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2. |
Is a |
False |
Acute metabolic disorder |
Inferred relationship |
Some |
|
Transitory neonatal electrolyte disturbance |
Is a |
False |
Acute metabolic disorder |
Inferred relationship |
Some |
|
Transitory amino acid metabolic disorder |
Is a |
True |
Acute metabolic disorder |
Inferred relationship |
Some |
|
Acute zinc deficiency |
Is a |
False |
Acute metabolic disorder |
Inferred relationship |
Some |
|
Acute urate nephropathy |
Is a |
True |
Acute metabolic disorder |
Inferred relationship |
Some |
|
Acute hyperglycemia |
Is a |
True |
Acute metabolic disorder |
Inferred relationship |
Some |
|
syndrome d'urémie prérénale |
Is a |
False |
Acute metabolic disorder |
Inferred relationship |
Some |
|
Familial arthrogryposis-cholestatic hepatorenal syndrome |
Is a |
False |
Acute metabolic disorder |
Inferred relationship |
Some |
|
Acute respiratory acidosis |
Is a |
True |
Acute metabolic disorder |
Inferred relationship |
Some |
|
Acute milk alkali syndrome |
Is a |
True |
Acute metabolic disorder |
Inferred relationship |
Some |
|
Transitory neonatal diabetes mellitus (disorder) |
Is a |
True |
Acute metabolic disorder |
Inferred relationship |
Some |
|
Transient neonatal bullous dermatosis |
Is a |
False |
Acute metabolic disorder |
Inferred relationship |
Some |
|
Transient neonatal hyperglycaemia |
Is a |
False |
Acute metabolic disorder |
Inferred relationship |
Some |
|
Idiopathic transient neonatal hyperinsulinaemia |
Is a |
False |
Acute metabolic disorder |
Inferred relationship |
Some |
|
Hepatic coma due to acute hepatitis B |
Is a |
False |
Acute metabolic disorder |
Inferred relationship |
Some |
|
Transitory neonatal hypoglycaemia |
Is a |
False |
Acute metabolic disorder |
Inferred relationship |
Some |
|
Transient neonatal renal tubular acidosis |
Is a |
False |
Acute metabolic disorder |
Inferred relationship |
Some |
|
Transient neonatal hyperglycinemia |
Is a |
False |
Acute metabolic disorder |
Inferred relationship |
Some |
|
Transient neonatal hypertyrosinemia |
Is a |
False |
Acute metabolic disorder |
Inferred relationship |
Some |
|
Hepatic coma due to acute hepatitis B with delta agent (disorder) |
Is a |
False |
Acute metabolic disorder |
Inferred relationship |
Some |
|
Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother. |
Is a |
False |
Acute metabolic disorder |
Inferred relationship |
Some |
|
A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. |
Is a |
False |
Acute metabolic disorder |
Inferred relationship |
Some |
|
Transitory metabolic disturbance in infant of pre-diabetic mother |
Is a |
False |
Acute metabolic disorder |
Inferred relationship |
Some |
|
Acute pericarditis co-occurrent and due to uremia (disorder) |
Is a |
False |
Acute metabolic disorder |
Inferred relationship |
Some |
|
Acute complication due to diabetes mellitus (disorder) |
Is a |
False |
Acute metabolic disorder |
Inferred relationship |
Some |
|
Acute hypoxemic respiratory failure (disorder) |
Is a |
True |
Acute metabolic disorder |
Inferred relationship |
Some |
|
Acute hypercapnic respiratory failure |
Is a |
True |
Acute metabolic disorder |
Inferred relationship |
Some |
|
Acute gout |
Is a |
True |
Acute metabolic disorder |
Inferred relationship |
Some |
|
Transient infantile hypertriglyceridemia and hepatosteatosis is a rare, genetic, hepatic disease characterized by massive hepatomegaly, moderate to severe, transient hypertriglyceridemia and hepatic steatosis (followed by fibrosis), manifesting in infancy with failure to thrive, vomiting, an enlarged abdomen and a fatty liver. Reduction or normalization of triglyceride serum levels occurs with advancing age. |
Is a |
True |
Acute metabolic disorder |
Inferred relationship |
Some |
|
Thyrotoxicosis due to acute thyroiditis |
Is a |
True |
Acute metabolic disorder |
Inferred relationship |
Some |
|
Dialysis disequilibrium syndrome |
Is a |
True |
Acute metabolic disorder |
Inferred relationship |
Some |
|
A rare neurologic disease characterized by lethargy, hypotonia, poor feeding, opisthotonus, and a typical high-pitched cry due to bilirubin accumulation in the globus pallidus, sub-thalamic nuclei, and other brain regions, resulting from severe neonatal unconjugated hyperbilirubinemia. Onset of symptoms is typically within the first three to five days of life. Additional features include fever, apnea, seizures, and coma. Respiratory failure or refractory seizures may lead to a fatal outcome. |
Is a |
True |
Acute metabolic disorder |
Inferred relationship |
Some |
|
Neonatal transient metabolic disturbance (disorder) |
Is a |
True |
Acute metabolic disorder |
Inferred relationship |
Some |
|
Porphyria-induced phototoxic burn (disorder) |
Is a |
True |
Acute metabolic disorder |
Inferred relationship |
Some |
|
A rare neurometabolic disease characterized by acute, reversible, and sometimes recurrent neurologic deterioration (including drowsiness, hypotonia, dysarthria, and ataxia) during a febrile illness. The condition is associated with reversible leukoencephalopathy and persistently increased urinary excretion (and sometimes cerebrospinal fluid concentration) mainly of alpha-ketoglutarate and N-acetylaspartate. |
Is a |
True |
Acute metabolic disorder |
Inferred relationship |
Some |
|